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 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 CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733

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 GeneticVariation CLINVAR Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. 14999774

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

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation UNIPROT Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

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 Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. 14991577

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 Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. 14991577

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 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. 15604247

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 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. 15604247

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 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 Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. 14999774

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 MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 Biomarker CLINGEN MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-terminal domain. 15199168

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 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 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: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR MutYH (MYH) and colorectal cancer. 16042573

2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 CausalMutation CLINVAR Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. 15890374

2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. 15761860

2005
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.710 GeneticVariation CLINVAR Germline susceptibility to colorectal cancer due to base-excision repair gene defects. 15931596

2005