| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Evaluation of MLH1 variants of unclear significance. | 29520894 | 2018 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. | 28640387 | 2017 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. | 24362816 | 2014 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | 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 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. | 18566915 | 2009 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. | 18373977 | 2008 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. | 17453009 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. | 16083711 | 2005 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. | 12810663 | 2003 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | The interaction of DNA mismatch repair proteins with human exonuclease I. | 11427529 | 2001 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. | 10480359 | 1999 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. | 10037723 | 1999 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. | 9697702 | 1998 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. | 9718327 | 1998 | |||||
Hereditary Nonpolyposis Colorectal Cancer
|
0.700 | CausalMutation | CLINVAR | Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. | 8993976 | 1997 |