Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. 28299530

2017
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. 25385508

2015
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Identification and functional analysis of novel THAP1 mutations. 21847143

2012
dbSNP: rs387907176
rs387907176
THAP1
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
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. 22377579

2012
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Homozygous THAP1 mutations as cause of early-onset generalized dystonia. 21425335

2011
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. 20825472

2011
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS. 21425341

2011
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 21839475

2011
dbSNP: rs387907176
rs387907176
THAP1
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
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Adult-onset leg dystonia due to a missense mutation in THAP1. 20629133

2010
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. 20687191

2010
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Novel THAP1 sequence variants in primary dystonia. 20083799

2010
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Prevalence of THAP1 sequence variants in German patients with primary dystonia. 20669277

2010
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. 20211909

2010
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. 19908320

2009
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147

2009
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. 19182804

2009
dbSNP: rs387907176
rs387907176
THAP1
0.800 GeneticVariation UNIPROT Mutation screening of the DYT6/THAP1 gene in Italy. 19908325

2009
dbSNP: rs387907176
rs387907176
THAP1
C 0.800 CausalMutation CLINVAR