DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs267607940 ×

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:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

28449805

2017

dbSNP:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

24362816

2014

dbSNP:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Germ-line mutations in mismatch repair genes associated with prostate cancer.

19723918

2009

dbSNP:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

16395668

2006

dbSNP:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

15849733

2005

dbSNP:

rs267607940

MSH2

0.700

CausalMutation

CLINVAR

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

10480359

1999