Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907125
rs387907125
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103 2012
dbSNP: rs387907125
rs387907125
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.800 GeneticVariation UNIPROT PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967 2012
dbSNP: rs387907125
rs387907125
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		A 0.800 CausalMutation CLINVAR