DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Breast Cancer, Familial ×

Gene: PMS2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

0.300

Biomarker

CLINGEN

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

29345684

2018

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

0.300

Biomarker

CLINGEN

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

25512458

2015

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

0.300

Biomarker

CLINGEN

Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.

17148452

2007

Entrez Id:	5395
Gene Symbol:	PMS2

PMS2

CUI:	C0346153
Disease:	Breast Cancer, Familial

Breast Cancer, Familial

0.300

Biomarker

CLINGEN

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.

7628019

1995