DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive ×

Variant: rs587778536 ×

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:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

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

23108399

2013

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

The first mutations in the MYH gene reported in Moroccan colon cancer patients.

22266422

2012

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

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

19032956

2009

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas.

18506705

2008

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.

17219385

2007

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

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

16557584

2006

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.

15987719

2005

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

16140997

2005

dbSNP:

rs587778536

MUTYH

CUI:	C1837991
Disease:	Colorectal Adenomatous Polyposis, Autosomal Recessive

Colorectal Adenomatous Polyposis, Autosomal Recessive

0.700

CausalMutation

CLINVAR

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

12606733

2003