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 GeneticVariation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005

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 GeneticVariation CLINVAR MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. 17161978

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Base excision repair and the role of MUTYH. 19725997

2007

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 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 MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006

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

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. 17931073

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study. 18992148

2008

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 Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. 18495334

2008

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Leiden Open Variation Database of the MUTYH gene. 20725929

2010

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 GeneticVariation CLINVAR Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis. 23322991

2012

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 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 Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. 15890374

2005

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 17949294

2007