DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs63750303 ×

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:

rs63750303

MLH1

0.700

GeneticVariation

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:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

22949387

2013

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.

21387278

2011

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

19698169

2009

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

18383312

2008

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

17594722

2007

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

17510385

2007

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

16995940

2006

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene.

16982745

2006

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

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

15713769

2005

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

12658575

2003

dbSNP:

rs63750303

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:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.

11781295

2002

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.

10082584

1999

dbSNP:

rs63750303

MLH1

0.700

GeneticVariation

CLINVAR

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.

9218993

1997