Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paroxysmal kinesigenic choreoathetosis
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
0.700 CausalMutation CLINVAR Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 23352743 2013
Paroxysmal kinesigenic choreoathetosis
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
0.700 CausalMutation CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012
Paroxysmal kinesigenic choreoathetosis
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
0.700 CausalMutation CLINVAR PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. 23077017 2012
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
0.700 CausalMutation CLINVAR
Episodic Kinesigenic Dyskinesia 1
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
0.010 GeneticVariation BEFREE Previously reported p.R240X was found in one patient with PKD with migraine without aura. 23077017 2012
Common Migraine
CUI: C0338480
Disease: Common Migraine
0.010 GeneticVariation BEFREE Previously reported p.R240X was found in one patient with PKD with migraine without aura. 23077017 2012