Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients. 22371642

2012

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Functional analysis of HNPCC-related missense mutations in MSH2. 18822302

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462

2008

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer. 17128465

2006

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. 15996210

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. 15870828

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15991316

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT A novel missense germline mutation in exon 2 of the hMSH2 gene in a HNPCC family from Southern Italy. 15896463

2005

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1. 15300854

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Gene symbol: hMSH2. Disease: Hereditary nonpolyposis colorectal cancer. 15046096

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. 15342696

2004

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT 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
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 12655568

2003

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Genetic analysis of familial colorectal cancer in Israeli Arabs. 12655564

2003

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
Colorectal cancer, hereditary nonpolyposis, type 1
0.600 GeneticVariation UNIPROT Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 11870161

2002