DisGeNET - a database of gene-disease associations

Hereditary Non-Polyposis Colon Cancer Type 2, C1333991

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

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.

25452455

2015

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

25645574

2015

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

25711197

2015

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

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:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.

25070057

2014

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).

24310308

2014

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

24493721

2014

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer.

25003300

2014

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

23408351

2013

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists.

23535968

2013

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

CLINVAR

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

21952876

2012

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

CLINVAR

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

22753075

2012

dbSNP:

rs63751194

MLH1

0.800

GeneticVariation

UNIPROT

Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.

22167527

2012

dbSNP:

rs63751194

MLH1

0.800

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

0.800

GeneticVariation

UNIPROT

American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

20065170

2010

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

CLINVAR

Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

19698169

2009

dbSNP:

rs63751194

MLH1

0.800

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

0.800

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

0.800

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

0.800

CausalMutation

CLINVAR

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

17510385

2007

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

CLINVAR

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

17135187

2006

dbSNP:

rs63751194

MLH1

0.800

CausalMutation

CLINVAR

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

16995940

2006