DisGeNET - a database of gene-disease associations

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

N. diseases: 244; N. variants: 282

Disease: Malignant Neoplasms ×

Variant: rs587782208 ×

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:

rs587782208

rs587782208

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.

2016