Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. | 15887124 | 2005 |
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0.700 | GeneticVariation | UNIPROT | Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | 23709753 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. | 11793469 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. | 10480359 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. | 18602922 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Long-range PCR facilitates the identification of PMS2-specific mutations. | 16619239 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. | 24027009 | 2013 |
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|
0.700 | GeneticVariation | UNIPROT | Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). | 16472587 | 2006 |
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0.700 | GeneticVariation | UNIPROT | A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. | 18178629 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. | 19479271 | 2009 |