THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Dystonia 6, torsion (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530 2017
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 Biomarker disease MGD Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in THAP1 cause dystonia are unknown. 26376866 2015
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation disease CLINVAR Persistent chorea in DYT6, due to anticholinergic therapy. 26275586 2015
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease CLINVAR Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation. 26486352 2015
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). 26610312 2016
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 21839475 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 Biomarker disease GENOMICS_ENGLAND DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. 21793105 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation disease CLINVAR Truncating mutations in THAP1 define the nuclear localization signal. 21495072 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531 2014
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. 21425341 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. 21800139 2012
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 20211909 2010
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. 20825472 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Further, we report that wild type THAP1 represses the expression of TOR1A, whereas dystonia 6-associated mutant THAP1 results in decreased repression of TOR1A. 20976771 2010
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease CLINVAR Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 21520283 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 Biomarker disease BEFREE Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking. 31817799 2019
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation disease CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804 2009
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Mutations in THAP1 have been associated with dystonia 6 (DYT6). 21847143 2012
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Novel THAP1 sequence variants in primary dystonia. 20083799 2010
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320 2009
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508 2015
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease CLINVAR Mutations in THAP1 have been associated with dystonia 6 (DYT6). 21847143 2012
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation disease CLINVAR THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 20211909 2010