DisGeNET - a database of gene-disease associations

Colorectal Carcinoma, C0009402

Variant: rs587780078 ×

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:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

22744763

2012

dbSNP:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

Frequent mutation in North African patients with MUTYH-associated polyposis.

21443744

2011

dbSNP:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

Implication of MYH in colorectal polyposis.

17122612

2006

dbSNP:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

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

16140997

2005

dbSNP:

rs587780078

MUTYH

TCC

0.700

CausalMutation

CLINVAR

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

15366000

2004