Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.700 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2008
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.700 CausalMutation CLINVAR Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443 2003