DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63751194 ×

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:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.

16636019

2006

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.

18205192

2008

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

22949379

2013

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.

17210669

2007

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

15713769

2005

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.

20020535

2010

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.

17210669

2007

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

17135187

2006

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Comprehensive functional assessment of MLH1 variants of unknown significance.

22736432

2012

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.

11781295

2002

dbSNP:

rs63751194

MLH1

0.710

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:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1.

10495924

1999

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

12547705

2003

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.

21952876

2012

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.

18618713

2008

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.

19419416

2009

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

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

18561205

2008

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

20864636

2010

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.

16830052

2006

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

17312306

2007

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer.

15731775

2005

dbSNP:

rs63751194

MLH1

0.710

GeneticVariation

CLINVAR

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.

11948175

2002

dbSNP:

rs63751194

MLH1

0.710

CausalMutation

CLINVAR

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

16995940

2006

dbSNP: