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 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 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 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 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 Biomarker disease BEFREE Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL). 25155315 2014
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss-of-function mutations in the zinc finger transcription factor THAP1. 30590536 2019
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Blood samples from twelve individuals of three German families with DYT6 positive index cases were obtained to test for THAP1 mutations.Eight THAP1 MutC were identified. 20687193 2010
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation disease BEFREE Here we report a novel mutation in the THAP1 gene identified in a Polish family with DYT6 phenotype - the c.15C>G substitution in exon 1 introducing the missense mutation p.Cys5Trp within the N-terminal THAP domain. 25168324 2014
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 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 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 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 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
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation disease CLINVAR Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. 20865765 2010
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 GeneticVariation 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 CausalMutation disease CLINVAR Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. 21110056 2011
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		0.980 CausalMutation 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 Biomarker disease CTD_human 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 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 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 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 GeneticVariation disease UNIPROT DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. 21425341 2011