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: rs63750049 ×

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:

rs63750049

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.700

CausalMutation

CLINVAR

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

18602922

2008

dbSNP:

rs63750049

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.700

CausalMutation

CLINVAR

Mannose-binding lectin and maladies of the bowel and liver.

17072973

2006

dbSNP:

rs63750049

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.700

CausalMutation

CLINVAR

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

15887124

2005

dbSNP:

rs63750049

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C1333990
Disease:

Hereditary Nonpolyposis Colorectal Cancer

0.700

CausalMutation

CLINVAR

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.

15887099

2005