Disease Term Disease ID Gene Symbol Classification References Source
Lafora Body Disease, Late Onset C0751784 EPM2A Causal Pathogenic evidence from ClinVar - ClinVar
NHLRC1 Causal Pathogenic evidence from ClinVar - ClinVar
Lafora disease 501 EPM2A Causal Pathogenic evidence from ClinVar - ClinVar
NHLRC1 Causal Pathogenic evidence from ClinVar - ClinVar
Lafora Disease C0751783 EPM2A Causal Pathogenic evidence from ClinVar 9771710, 9931343, 10932264, 11001928, 11175283, 11739371, 12019207, 12560877, 14532330, 14706656, 14722920, 15009235, 18311786, 21376300, 22047982, 22669944, 25544560, 26231210, 27604308 ClinVar
NHLRC1 Causal Pathogenic evidence from ClinVar 12958597, 12960212, 15781812, 15930137, 16021330, 16134145, 16190947, 16311711, 16529633, 16950819, 17952067, 18029386, 18256682, 18263761, 18311786, 19744044, 20738377, 21505799, 22047982, 22669944, 22815132, 25667860, 27604308 ClinVar
Early-onset Lafora body disease 324290 PRDM8 Causal Pathogenic evidence from ClinVar - ClinVar