DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MUTYH-Associate Polyposis ×

Gene: MUTYH ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.

23322991

2012

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

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

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

16134147

2005

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

25820570

2015

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

20848659

2010

dbSNP:

rs1060501335

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.

16941501

2006

dbSNP:

rs121908380

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs121908380

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

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

12606733

2003

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.

18301448

2008

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

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

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

19394335

2009

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

16557584

2006

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

20848659

2010

dbSNP:

rs138775799

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

19032956

2009

dbSNP:

rs140342925

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.710

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs140342925

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.710

CausalMutation

CLINVAR

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

25820570

2015

dbSNP:

rs140342925

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.710

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs140342925

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.710

CausalMutation

CLINVAR

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

16134147

2005

dbSNP:

rs143353451

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.

20618354

2010

dbSNP:

rs143353451

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Impaired suppressive activities of human MUTYH variant proteins against oxidative mutagenesis.

23322991

2012

dbSNP:

rs143353451

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

28135145

2017

dbSNP:

rs143353451

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

25820570

2015

dbSNP:

rs143353451

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Inherited DNA-Repair Defects in Colorectal Cancer.

29478780

2018