Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. | 28299530 | 2017 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. | 25385508 | 2015 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification and functional analysis of novel THAP1 mutations. | 21847143 | 2012 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. | 21800139 | 2012 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. | 22377579 | 2012 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Homozygous THAP1 mutations as cause of early-onset generalized dystonia. | 21425335 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines on diagnosis and treatment of primary dystonias. | 20482602 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. | 20825472 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. | 21425341 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Novel THAP1 gene mutations in patients with primary dystonia from southwest China. | 21839475 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. | 21110056 | 2011 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Adult-onset leg dystonia due to a missense mutation in THAP1. | 20629133 | 2010 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. | 20687191 | 2010 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Novel THAP1 sequence variants in primary dystonia. | 20083799 | 2010 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Prevalence of THAP1 sequence variants in German patients with primary dystonia. | 20669277 | 2010 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. | 20211909 | 2010 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. | 19908320 | 2009 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. | 19345147 | 2009 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. | 19182804 | 2009 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | GeneticVariation | UNIPROT | Mutation screening of the DYT6/THAP1 gene in Italy. | 19908325 | 2009 | |||||
Dystonia 6, torsion (disorder)
|
0.800 | CausalMutation | CLINVAR |