DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Endometrial Carcinoma ×

Gene: MSH6 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2020912

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

14961575

2004

dbSNP:

rs2020912

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

11153917

2000

dbSNP:

rs267608059

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs63749843

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs63749889

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs63749999

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs63750664

MSH6

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

14961575

2004

dbSNP:

rs63750664

MSH6

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

11153917

2000

dbSNP:

rs63750741

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

14961575

2004

dbSNP:

rs63750741

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

UNIPROT

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

11153917

2000

dbSNP:

rs63751017

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs786201042

MSH6

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs876660943

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587781462

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.010

GeneticVariation

BEFREE

To the best of our knowledge, this is the first description of MSH6 T767I pathogenic variant that could be associated with a hereditary endometrial cancer.

31100584

2019

dbSNP:

rs63750111

MSH6 ; FBXO11

CUI:	C0476089
Disease:	Endometrial Carcinoma

Endometrial Carcinoma

0.010

GeneticVariation

BEFREE

Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup).

20850175

2010