Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. 25151137

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. 26377631

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation 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
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer. 24799981

2014