Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.020 GeneticVariation BEFREE With high specificity, the c.34G>T mutation seems to be a useful and promising test for MAP. 26056087 2015
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.020 GeneticVariation BEFREE The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data. 24486588 2014