Disease: Episodic Kinesigenic Dyskinesia 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. 27172900 2016
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. 25915028 2015
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761 2012
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361 2012
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 22120146 2011
dbSNP: rs767799831
rs767799831
Entrez Id: 79447;112476
Gene Symbol: PAGR1;PRRT2
PAGR1;PRRT2
CUI: C4552000
Disease:
Episodic Kinesigenic Dyskinesia 1 		0.700 GeneticVariation UNIPROT Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681 2011