Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 26511139 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. 24691292 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. 25856671 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma. 25937855 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. 24799981 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. 24470512 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. 24799981 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 GeneticVariation group CLINVAR UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. 23729658 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Personalized genomic disease risk of volunteers. 24082139 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. 23007840 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.100 CausalMutation group CLINVAR MUTYH gene variants and breast cancer in a Dutch case–control study. 22297469 2012