Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
0.100 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
0.100 CausalMutation CLINVAR Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443

2003