DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs267607978 ×

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:

rs267607978

MSH2

0.700

GeneticVariation

CLINVAR

Predicting the functional effect of amino acid substitutions and indels.

23056405

2012

dbSNP:

rs267607978

MSH2

0.700

GeneticVariation

CLINVAR

Deciphering the mismatch recognition cycle in MutS and MSH2-MSH6 using normal-mode analysis.

19254532

2009

dbSNP:

rs267607978

MSH2

0.700

GeneticVariation

CLINVAR

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

18772310

2008

dbSNP:

rs267607978

MSH2

0.700

GeneticVariation

CLINVAR

Structure of the human MutSalpha DNA lesion recognition complex.

17531815

2007

dbSNP:

rs267607978

MSH2

0.700

GeneticVariation

CLINVAR

Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma.

14668545

2004