PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Torticollis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040485
Disease: Torticollis
Torticollis 		0.120 GeneticVariation phenotype BEFREE PRRT2 mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. 23398397 2013
CUI: C0040485
Disease: Torticollis
Torticollis 		0.120 GeneticVariation phenotype BEFREE We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. 22845787 2012
CUI: C0040485
Disease: Torticollis
Torticollis 		0.120 Biomarker phenotype HPO