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:

rs888691362

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs746449748

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587780082

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

dbSNP:

rs200844166

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553129062

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

dbSNP:

rs36053993

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.770

CausalMutation

CLINVAR

MAP patients carrying the p.Glu480del variant presented with a younger age at polyp diagnosis as compared to patients carrying p.Gly396Asp and p.Tyr179Cys variants.

27829682

2017

dbSNP:

rs36053993

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.770

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:

rs587778541

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

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

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

20848659

2010

dbSNP:

rs36053993

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.770

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

dbSNP:

rs587780078

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

TCC

0.710

CausalMutation

CLINVAR

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

19032956

2009

dbSNP:

rs765123255

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

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

19032956

2009

dbSNP:

rs730881832

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

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

19032956

2009

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:

rs730881832

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

12853198

2003

dbSNP:

rs587782228

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Base excision repair and the role of MUTYH.

19725997

2007

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:

rs200495564

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

29330641

2018

dbSNP:

rs34612342

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.800

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

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs587778536

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

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs587778541

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

CausalMutation

CLINVAR

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

27705013

2016

dbSNP:

rs765123255

MUTYH

CUI:	C3272841
Disease:	MUTYH-Associate Polyposis

MUTYH-Associate Polyposis

0.700

GeneticVariation

CLINVAR

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.

19527492

2009