THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Cervical Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		0.020 GeneticVariation phenotype BEFREE Molecular investigations revealed 4 of the CD cases and 2 controls to harbor sequence variants in non-coding regions of THAP1, and these cases had lower Purkinje cell densities regardless of whether they had CD. 23195594 2013
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		0.020 Biomarker phenotype BEFREE DYT6 testing is recommended in early-onset or familial cases with cranio-cervical dystonia or after exclusion of DYT1. 20482602 2011