Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. | 24444654 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Pathological features of colorectal carcinomas in MYH-associated polyposis. | 18564191 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Characterization of mutant MUTYH proteins associated with familial colorectal cancer. | 18534194 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. | 17273161 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. | 18091433 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. | 17219385 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. | 16492921 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. | 16890597 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. | 12393807 | 2002 |