DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs1553333497 ×

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:

rs1553333497

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.

24100870

2013

dbSNP:

rs1553333497

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

21155762

2011

dbSNP:

rs1553333497

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Structure of the human MutSalpha DNA lesion recognition complex.

17531815

2007

dbSNP:

rs1553333497

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

DNA mismatch repair: functions and mechanisms.

16464007

2006

dbSNP:

rs1553333497

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

DNA mismatch repair.

15952900

2005