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: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population. 26694661 2016
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. 24470512 2014
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. 23561487 2013
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
dbSNP: rs34126013
rs34126013
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: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411 2008
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433 2007
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. 17931073 2007
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. 17161978 2007
dbSNP: rs34126013
rs34126013
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: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
dbSNP: rs34126013
rs34126013
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: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. 15673720 2005
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147 2005
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. 15673720 2005
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. 14991577 2004
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. 14991577 2004
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004
dbSNP: rs34126013
rs34126013
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: rs34126013
rs34126013
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