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 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 UNIPROT Adult-onset leg dystonia due to a missense mutation in THAP1. 20629133 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 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 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 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 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 DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. 20687191 2010
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 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 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 UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579 2012
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 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 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 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 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 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 UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325 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 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 GeneticVariation disease UNIPROT 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 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 Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009