THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
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 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 GeneticVariation disease UNIPROT 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 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 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 Novel THAP1 sequence variants in primary dystonia. 20083799 2010
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 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 GeneticVariation disease UNIPROT Prevalence of THAP1 sequence variants in German patients with primary dystonia. 20669277 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 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 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 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
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 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 Mutation screening of the DYT6/THAP1 gene in Italy. 19908325 2009
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 GeneticVariation disease CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 GeneticVariation phenotype 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: C0013421
Disease: Dystonia
Dystonia 		0.600 GeneticVariation phenotype BEFREE We report a case of a 51-year-old male DYT-THAP1 mutation carrier with dystonia, who additionally developed ataxia 1.5 years ago. 31367947 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 GeneticVariation phenotype BEFREE These lines provide a valuable resource for studying the impact of THAP1 mutations on the pathology of dystonia. 30316041 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. 29396174 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. 29364887 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker phenotype BEFREE The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage. 28697333 2017