THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Focal Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.320 GeneticVariation disease BEFREE Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. 26803725 2016
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.320 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		0.320 Biomarker disease BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002