DisGeNET - a database of gene-disease associations

Colorectal Carcinoma, C0009402

Variant: rs587783057 ×

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:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

19531215

2009

dbSNP:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.

19245865

2009

dbSNP:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

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

16557584

2006

dbSNP:

rs587783057

MUTYH

0.700

CausalMutation

CLINVAR

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

16140997

2005