DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Ptosis ×

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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:	11232
Gene Symbol:	POLG2

POLG2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

GeneticVariation

BEFREE

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

2010

Entrez Id:	11232
Gene Symbol:	POLG2

POLG2

CUI:	C0033377
Disease:	Ptosis

Ptosis

0.110

Biomarker

HPO