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
0.770 CausalMutation CLINVAR MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants. 27829682 2017
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE In the Asian population, Y179C and G396D are uncommon, whereas other variants are suggested to be the major causes of MAP. 23605219 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 24953332 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394 2013
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE Altogether c.933+3A>C and the two common Caucasian mutations p.Tyr179Cys and p.Gly396Asp represent about 60% of MUTYH alterations in MAP patients from North-Eastern Italy, suggesting the opportunity to perform targeted molecular screening for these variants in the diagnostic setting. 22865608 2013
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE Three individuals were biallelic MUTYH variant carriers (p.Y179C/p.G382D: typical MAP; p.Y179C/p.Q338H: atypical MAP with late onset and lower polyp burden; p.G382D/p.Q338H: inflammatory bowel disease), and four subjects were monoallelic mutation carriers. 22469480 2012
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879 2012
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE Cell lines that stably express the MUTYH-associated polyposis variants G382D and Y165C have significantly lower OG:A repair versus wild-type MEFs and MEFs expressing human wild-type MUTYH. 22926731 2012
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE The aim of this study was to assess the frequency of the germline MUTYH mutations p.Y179C and p.G396D in Brazilian patients with MAP and other hereditary colorectal cancer (CRC) phenotypes, as well as in sporadic CRC cases. 21424714 2011
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313 2009
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.770 GeneticVariation BEFREE The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC. 15987719 2005