DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs267608118 ×

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:

rs267608118

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

26483394

2016

dbSNP:

rs267608118

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

24689082

2014

dbSNP:

rs267608118

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

20587412

2010