MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. 29406563 2018
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 Biomarker disease CLINGEN Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. 28087410 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. 28127763 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 Biomarker disease CLINGEN Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine. 28087410 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 26824983 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. 26902849 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing. 25151137 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR MUTYH mediates the toxicity of combined DNA 6-thioguanine and UVA radiation. 25638157 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. 26377631 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Genomic variations integrated database for MUTYH-associated adenomatous polyposis. 25368107 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.710 CausalMutation disease CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978 2015