DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Blepharoptosis ×

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:	5428
Gene Symbol:	POLG

POLG

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

GeneticVariation

BEFREE

So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis.

2008

Entrez Id:	5428
Gene Symbol:	POLG

POLG

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.110

Biomarker

HPO