| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. | 20176959 | 2010 |
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G | 0.700 | GeneticVariation | CLINVAR | Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. | 19419416 | 2009 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. | 17594722 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. | 17210669 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. | 17510385 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. | 17453009 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. | 16083711 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. | 15475387 | 2004 |
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G | 0.700 | GeneticVariation | CLINVAR | Human mismatch-repair protein MutL homologue 1 (MLH1) interacts with Escherichia coli MutL and MutS in vivo and in vitro: a simple genetic system to assay MLH1 function. | 12513688 | 2003 |
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G | 0.700 | GeneticVariation | 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 |