DisGeNET - a database of gene-disease associations

Hereditary Non-Polyposis Colon Cancer Type 2, C1333991

Variant: rs63750430 ×

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:

rs63750430

MLH1

0.700

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:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

Lynch Syndrome: A Primer for Urologists and Panel Recommendations.

25711197

2015

dbSNP:

rs63750430

MLH1

0.700

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:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

A human compound heterozygote for two MLH1 missense mutations.

9326924

1997

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

20020535

2010

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

10413423

1999

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

10375096

1999

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

11781295

2002

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

11839723

2002

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

23788249

2013

dbSNP:

rs63750430

MLH1

0.700

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:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

8993976

1997

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

25645574

2015

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

20065170

2010

dbSNP:

rs63750430

MLH1

0.700

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:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

23535968

2013

dbSNP:

rs63750430

MLH1

0.700

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:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

9311737

1997

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

22753075

2012

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

11793442

2002

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.

8797773

1996

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

8872463

1996

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

11748856

2001

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

Missense mutations in hMLH1 associated with colorectal cancer.

10598809

1999

dbSNP:

rs63750430

MLH1

0.700

GeneticVariation

UNIPROT

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

24493721

2014