DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs267608154 ×

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:

rs267608154

PMS2

0.700

CausalMutation

CLINVAR

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

27696107

2017

dbSNP:

rs267608154

PMS2

0.700

CausalMutation

CLINVAR

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

26110232

2016

dbSNP:

rs267608154

PMS2

0.700

CausalMutation

CLINVAR

Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.

26248088

2015

dbSNP:

rs267608154

PMS2

0.700

CausalMutation

CLINVAR

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

25980754

2015

dbSNP:

rs267608154

PMS2

0.700

CausalMutation

CLINVAR

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

18602922

2008