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 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 CausalMutation 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 Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. 19527492

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. 19527492

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. 19806110

2009

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 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 MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. 20618354

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation 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 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 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 French experts report on MUTYH-associated polyposis (MAP). 22538434

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012

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 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