Disease Term Disease ID Gene Symbol Classification References Source
Episodic Kinesigenic Dyskinesia 1 C4552000 PRRT2 Causal Pathogenic evidence from ClinVar 22101681, 22120146, 22131361, 22209761, 22243967, 22399141, 22464846, 22744660, 22752065, 22782515, 22845787, 22902309, 23363396, 23768507, 24074546, 25915028, 26598493, 27172900, 28074849 ClinVar