Disease Term Disease ID Gene Symbol Classification References Source
Progressive myoclonic epilepsy type 8 424027 CERS1 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive myoclonic epilepsy type 6 280620 GOSR2 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive myoclonic epilepsy type 7 435438 KCNC1 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive myoclonic epilepsy type 3 263516 KCTD7 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive myoclonic epilepsy type 9 457265 LMNB2 Causal Pathogenic evidence from ClinVar - ClinVar
Progressive myoclonic epilepsy type 5 402082 PRICKLE2 Causal Pathogenic evidence from ClinVar - ClinVar
POLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -