DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Gene: MSH2 ×

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:

rs1060501991

MSH2

0.700

GeneticVariation

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:

rs1060501991

MSH2

0.700

GeneticVariation

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:

rs1060501991

MSH2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060501993

MSH2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1060502023

MSH2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1064794155

MSH2

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1064795329

MSH2

0.700

GeneticVariation

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:

rs1064795329

MSH2

0.700

GeneticVariation

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:

rs1114167841

MSH2

0.700

GeneticVariation

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:

rs1114167841

MSH2

0.700

GeneticVariation

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:

rs12476364

MSH2

0.700

GeneticVariation

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:

rs12476364

MSH2

0.700

GeneticVariation

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:

rs1553348901

MSH2

0.700

GeneticVariation

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:

rs1553348901

MSH2

0.700

GeneticVariation

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:

rs1553366680

MSH2

0.700

GeneticVariation

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:

rs1553366680

MSH2

0.700

GeneticVariation

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:

rs267607914

MSH2

0.700

GeneticVariation

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:

rs267607914

MSH2

0.700

GeneticVariation

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:

rs267607943

MSH2

0.700

GeneticVariation

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:

rs267607943

MSH2

0.700

GeneticVariation

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:

rs267607943

MSH2

0.700

GeneticVariation

CLINVAR

Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers.

20388775

2010

dbSNP:

rs267607943

MSH2

0.700

GeneticVariation

CLINVAR

Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

15955785

2005

dbSNP:

rs267607976

MSH2

0.700

GeneticVariation

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:

rs267607976

MSH2

0.700

GeneticVariation

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: