Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694

2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 11809679

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation 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 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082

2014
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. 10528862

1999
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1. 11857745

2002
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007
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 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: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.600 CausalMutation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family. 21156417

2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. 19250818

2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A novel MSH2 germline mutation in a Druze HNPCC family. 17661183

2008
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation 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
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.600 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614

2012