Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0033377
Disease: Ptosis
Ptosis 		0.110 Biomarker HPO

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0033377
Disease: Ptosis
Ptosis 		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. 18546343

2008