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 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 No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

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 CausalMutation 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

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 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 CausalMutation CLINVAR Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. 16616356

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C3272841
Disease: MUTYH-Associate Polyposis
MUTYH-Associate Polyposis
0.200 GeneticVariation CLINVAR Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. 17703316

2007

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 Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2005

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 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 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 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 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 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 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 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 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 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 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 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 Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008

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 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009