DisGeNET - a database of gene-disease associations

PMS2, PMS1 homolog 2, mismatch repair system component, 5395

N. diseases: 244; N. variants: 282

Disease: Hereditary Nonpolyposis Colorectal Cancer ×

Variant: rs587778617 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587778617

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.710

GeneticVariation

BEFREE

Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers.

31056861

2019

dbSNP:

rs587778617

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.710

CausalMutation

CLINVAR

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

26110232

2016