DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: MSH6 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Dominant negative mutator mutations in the mutS gene of Escherichia coli.

8071216

1994

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Mutations of GTBP in genetically unstable cells.

7604266

1995

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

9307272

1997

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Germ-line msh6 mutations in colorectal cancer families.

10537275

1999

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Germline mutations in a polycytosine repeat of the hMSH6 gene in Korean hereditary nonpolyposis colorectal cancer.

9929971

1999

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Familial endometrial cancer in female carriers of MSH6 germline mutations.

10508506

1999

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations.

10521294

1999

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden.

10471527

1999

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.

10938287

2000

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

11479205

2001

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

11709755

2002

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype.

12376742

2002

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

12373605

2002

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

11807791

2002

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation.

11807791

2002

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

MSH6 germline mutations are rare in colorectal cancer families.

14520694

2003

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

12732731

2003

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors.

12547705

2003

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers.

12732731

2003

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

14974087

2004

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

HNPCC: six new pathogenic mutations.

15217520

2004

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility.

15324697

2004

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

GeneticVariation

CLINVAR

MSH6 missense mutations are often associated with no or low cancer susceptibility.

15354210

2004

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

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

15365995

2004

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.110

CausalMutation

CLINVAR

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

14974087

2004