Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR MUTYH-associated colorectal cancer and adenomatous polyposis. 23605219

2014

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Frequent mutation in North African patients with MUTYH-associated polyposis. 21443744

2013

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2013

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Leiden Open Variation Database of the MUTYH gene. 20725929

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 GeneticVariation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. 19245865

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194

2008

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Implication of MYH in colorectal polyposis. 17122612

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. 17368238

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 GeneticVariation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997

2006

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2005

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. 15635083

2005

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.460 CausalMutation CLINVAR Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 15931596

2005