DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63751711 ×

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:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

27601186

2016

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Lynch syndrome in Tunisia: first description of clinical features and germline mutations.

21311894

2011

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

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

18772310

2008

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

18561205

2008

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

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

18383312

2008

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

17510385

2007

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

16451135

2006

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

16341550

2006

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

15300854

2004

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.

14871975

2004

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

12655568

2003

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

12362047

2002

dbSNP:

rs63751711

MLH1

0.700

CausalMutation

CLINVAR

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.

8571956

1996

dbSNP:

rs63751711

MLH1

0.700

GeneticVariation

CLINVAR