DisGeNET - a database of gene-disease associations

MUTYH-Associate Polyposis, C3272841

Variant: rs200495564 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

29330641

2018

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

High-frequency actionable pathogenic exome variants in an average-risk cohort.

30487145

2018

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis.

28141798

2017

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

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

25820570

2015

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

24569162

2014

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Role of MUTYH in human cancer.

23507534

2013

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

22865608

2013

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

23108399

2013

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

22703879

2012

dbSNP:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.

17703316

2007

dbSNP:

rs200495564

MUTYH

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:

rs200495564

MUTYH

0.700

CausalMutation

CLINVAR

Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.

15890374

2005