Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530 2017
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 21839475 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531 2014
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. 21425341 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 20211909 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. 20825472 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease CLINVAR Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. 21520283 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804 2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease BEFREE Mutations in THAP1 have been associated with dystonia 6 (DYT6). 21847143 2012
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Novel THAP1 sequence variants in primary dystonia. 20083799 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508 2015
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease CLINVAR Mutations in THAP1 have been associated with dystonia 6 (DYT6). 21847143 2012
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6. 21425335 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. 20687191 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Prevalence of THAP1 sequence variants in German patients with primary dystonia. 20669277 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325 2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		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
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.980 GeneticVariation disease UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579 2012