Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR MUTYH gene variants and breast cancer in a Dutch case–control study. 22297469

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. 15188161

2004

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015

2011

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

2003

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. 11092888

2001

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer. 22641385

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. 17369389

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. 16207212

2005

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991

2012