DisGeNET - a database of gene-disease associations

rs200640585, PMS2

N. diseases: 9

Disease: Carcinoma, Ovarian Epithelial ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Carcinoma, Ovarian Epithelial

CUI:	C4721610
Disease:	Carcinoma, Ovarian Epithelial

0.010

GeneticVariation

BEFREE

PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer.

2019