DisGeNET - a database of gene-disease associations

Colorectal Carcinoma, C0009402

Variant: rs587780088 ×

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:

rs587780088

MUTYH

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs587780088

MUTYH

0.700

CausalMutation

CLINVAR

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

19032956

2009

dbSNP:

rs587780088

MUTYH

0.700

CausalMutation

CLINVAR

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

19394335

2009

dbSNP:

rs587780088

MUTYH

0.700

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008