DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Colorectal Carcinoma ×

Variant: rs34612342 ×

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:

rs34612342

MUTYH

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

CausalMutation

CLINVAR

MUTYH-associated colorectal cancer and adenomatous polyposis.

23605219

2014

dbSNP:

rs34612342

MUTYH

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

CausalMutation

CLINVAR

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

22703879

2012

dbSNP:

rs34612342

MUTYH

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

CausalMutation

CLINVAR

Leiden Open Variation Database of the MUTYH gene.

20725929

2010

dbSNP:

rs34612342

MUTYH

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.800

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009