DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63749909 ×

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:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

25980754

2015

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

23403630

2013

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

22949387

2013

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

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

17510385

2007

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.

17594722

2007

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

12810663

2003

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

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:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.

10874307

2000

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.

10037723

1999

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

10422993

1999

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

9697702

1998

dbSNP:

rs63749909

MLH1

0.700

GeneticVariation

CLINVAR

Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.

8574961

1996