| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | 18561205 | 2008 |
||||
|
0.700 | GeneticVariation | UNIPROT | Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. | 21120944 | 2011 |
||||
|
0.700 | GeneticVariation | UNIPROT | Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. | 25003300 | 2014 |
||||
|
0.700 | GeneticVariation | UNIPROT | Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. | 25452455 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). | 16451135 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. | 10375096 | 1999 |
||||
|
0.700 | GeneticVariation | UNIPROT | Four novel MSH2 / MLH1 gene mutations in portuguese HNPCC families. | 10612836 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | Novel germline mutations of hMSH2 in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers. | 9621522 | 1998 |
||||
|
0.700 | GeneticVariation | UNIPROT | Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. | 23408351 | 2013 |
||||
|
0.700 | GeneticVariation | UNIPROT | Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. | 9718327 | 1998 |
||||
|
0.700 | GeneticVariation | UNIPROT | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. | 24493721 | 2014 |