Disease: Dyskinesias, Paroxysmal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.130 GeneticVariation disease BEFREE We analysed all three genes (the whole coding regions of SLC2A1 and PRRT2 and exons one and two of PNKD) in a series of 145 families with paroxysmal dyskinesias as well as in a series of 53 patients with familial episodic ataxia and hemiplegic migraine to investigate the mutation frequency and type and the genetic and phenotypic spectrum. 26598494 2015
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.130 Biomarker disease BEFREE The myofibrillogenesis regulator-1 gene is responsible for nonkinesigenic PDs. 23622292 2013
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.130 GeneticVariation disease BEFREE Genetic data localized the underlying mutation to the FPD1 locus (familial paroxysmal dyskinesia type 1) on chromosome 2q and support locus homogeneity for the Mount-Reback syndrome. 9371903 1997
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.130 CausalMutation disease CLINVAR
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.130 Biomarker disease HPO