Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CTD_human

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation BEFREE Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus. 15180946

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus. 15180946

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Adaptive variation in environmental and genetic sex determination in a fish. 3561487

1987
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation UNIPROT 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer. 20628285

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer. 20628285

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population. 18271935

2008
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker GENOMICS_ENGLAND Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation UNIPROT Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807

2002
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807

2002