MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399 2013
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. 16941501 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733 2003
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis. 17081686 2007
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198 2003
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147 2005
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399 2013
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		T 0.800 GeneticVariation 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