DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs63750617 ×

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:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

27696107

2017

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

28481244

2017

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Massively Parallel Sequencing-Based Clonality Analysis of Synchronous Endometrioid Endometrial and Ovarian Carcinomas.

26832770

2016

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

27601186

2016

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.

27398995

2016

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

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

25980754

2015

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

22949379

2013

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.

22495361

2012

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Human MSH6 deficiency is associated with impaired antibody maturation.

22250089

2012

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

21056691

2011

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

21039432

2011

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.

21836479

2011

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

21039432

2011

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

18566915

2009

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test.

19072991

2009

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

18409202

2008

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

18409202

2008

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

16525781

2006

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

16418736

2006

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

16418736

2006

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

16525781

2006

dbSNP:

rs63750617

MSH6 ; FBXO11

0.700

GeneticVariation

CLINVAR

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

15483016

2004