Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Characteristics of MUTYH variants in Japanese colorectal polyposis patients. 29330641

2018

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Inherited DNA-Repair Defects in Colorectal Cancer. 29478780

2018

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR High-frequency actionable pathogenic exome variants in an average-risk cohort. 30487145

2018

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537

2017

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis. 28141798

2017

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682

2017

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145

2017

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients. 27705013

2016

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation 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
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation 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
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation 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
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 24953332

2014

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation 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
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 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

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Role of MUTYH in human cancer. 23507534

2013

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation 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
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. 23322991

2012