DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×

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:

rs1057517551

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517552

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553331659

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553333093

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553333370

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553333753

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

ATTAT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553408127

MSH6

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553408245

MSH6

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

CCTTCCCCA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553408380

MSH6

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553410230

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553414029

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553414239

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553414395

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922343

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

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

25980754

2015

dbSNP:

rs193922343

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21642682

2011

dbSNP:

rs193922343

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Mutation spectrum in HNPCC in the Israeli population.

18389388

2008

dbSNP:

rs267608041

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs267608058

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

23047549

2012

dbSNP:

rs267608058

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs267608058

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

20487569

2010

dbSNP:

rs267608058

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

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

18566915

2009

dbSNP:

rs267608058

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

Germ-line msh6 mutations in colorectal cancer families.

10537275

1999

dbSNP:

rs267608064

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

GeneticVariation

CLINVAR

dbSNP:

rs267608066

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR

dbSNP:

rs267608077

MSH6 ; FBXO11

CUI:	C1833477
Disease:	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

0.700

CausalMutation

CLINVAR