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 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827

1997

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer. 9506527

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. 9621522

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. 9777949

1998

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene. 10077621

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. 10196371

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. 10323887

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. 10375096

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. 10422993

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer. 10448273

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1. 10495924

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombination. 10523644

1999

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 [Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis]. 10530344

1999

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer. 10564582

2000

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. 10612836

2000

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach. 10713887

2000