DisGeNET - a database of gene-disease associations

Colorectal Adenomatous Polyposis, Autosomal Recessive, C1837991

Variant: rs730881833 ×

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:

rs730881833

MUTYH

0.800

GeneticVariation

CLINVAR

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

25820570

2015

dbSNP:

rs730881833

MUTYH

0.800

GeneticVariation

CLINVAR

Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.

25892863

2015

dbSNP:

rs730881833

MUTYH

0.800

GeneticVariation

CLINVAR

Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis.

18422726

2008

dbSNP:

rs730881833

MUTYH

0.800

GeneticVariation

CLINVAR

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

17703316

2007

dbSNP:

rs730881833

MUTYH

0.800

GeneticVariation

UNIPROT

dbSNP:

rs730881833

MUTYH

0.800

CausalMutation

CLINVAR