Disease: Paroxysmal kinesigenic choreoathetosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555502908
rs1555502908
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C1868682
Disease:
Paroxysmal kinesigenic choreoathetosis 		G 0.700 GeneticVariation CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012