DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs201451115 ×

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:

rs201451115

PMS2

0.700

CausalMutation

CLINVAR

Inherited Mutations in Women With Ovarian Carcinoma.

26720728

2016

dbSNP:

rs201451115

PMS2

0.700

CausalMutation

CLINVAR

PMS2 monoallelic mutation carriers: the known unknown.

25856668

2016

dbSNP:

rs201451115

PMS2

0.700

CausalMutation

CLINVAR

The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

23012243

2013

dbSNP:

rs201451115

PMS2

0.700

CausalMutation

CLINVAR

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

18602922

2008