DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63751207 ×

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:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Classification of mismatch repair gene missense variants with PON-MMR.

22290698

2012

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

18383312

2008

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

17720936

2007

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

16995940

2006

dbSNP:

rs63751207

MSH2

0.710

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:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

15235030

2004

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

12124176

2002

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

10469597

1999

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

9774676

1998

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

CLINVAR

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

8521394

1995

dbSNP:

rs63751207

MSH2

0.710

GeneticVariation

BEFREE

We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.

7937795

1994