Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | CLINGEN | Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. | 27329137 | 2016 | ||||
|
0.700 | Biomarker | disease | CTD_human | Germ line hemiallelic methylations of MLH1 or MSH2 are termed as epimutations and have been identified as causative of Lynch syndrome. | 25701956 | 2015 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Cancer risks for MLH1 and MSH2 mutation carriers. | 23255516 | 2013 | ||||
|
0.700 | Biomarker | disease | CTD_human | A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | 22102614 | 2012 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. | 17101317 | 2006 | ||||
|
0.700 | Biomarker | disease | CTD_human | Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. | 14756672 | 2004 | ||||
|
0.700 | Biomarker | disease | CTD_human | The role of hMLH3 in familial colorectal cancer. | 12702580 | 2003 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice. | 8706033 | 1996 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. | 8261515 | 1993 |