DisGeNET - a database of gene-disease associations

Hereditary Non-Polyposis Colon Cancer Type 2, C1333991

Variant: rs63750217 ×

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:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

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

23403630

2013

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

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

22753075

2012

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

21120944

2011

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

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

20020535

2010

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.

18033691

2008

dbSNP:

rs63750217

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:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

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

17594722

2007

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

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

17510385

2007

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.

15864295

2005

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.

16083711

2005

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

15365995

2004

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

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

11781295

2002

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

11839723

2002

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

11793442

2002

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

11726306

2001

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.

11748856

2001

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.

10375096

1999

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.

10413423

1999

dbSNP:

rs63750217

MLH1

0.800

CausalMutation

CLINVAR

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

10037723

1999

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Missense mutations in hMLH1 associated with colorectal cancer.

10598809

1999

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.

9559627

1998

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.

9833759

1998

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.

10627141

1998

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.

8993976

1997

dbSNP:

rs63750217

MLH1

0.800

GeneticVariation

UNIPROT

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.

9311737

1997