| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. | 27829682 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. | 24691292 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. | 23561487 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. | 22865608 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. | 23108399 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. | 19032956 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. | 19732775 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Characterization of mutant MUTYH proteins associated with familial colorectal cancer. | 18534194 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. | 15635083 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. | 12606733 | 2003 |