×
Entrez Id:
2643
Gene Symbol:
GCH1
GCH1
0.010
GeneticVariation
disease
BEFREE
To date gene loci have been identified in at least six autosomal dominant forms, i.e., in idiopathic torsion dystonia (9q34), focal dystonia (18p), adult-onset idiopathic torsion dystonia of mixed type (8p21-q22), dopa-responsive dystonia (14q22.1-q22.2), and paroxysmal dystonic choreoathetosis (2q25-q33; 1p21-p13.3).
10737119
1998
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
0.040
GeneticVariation
disease
BEFREE
We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects.Groups were age-matched.
17078060
2006
×
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
Biomarker
disease
CTD_human
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
UNIPROT
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
19345147
2009
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
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
CLINVAR
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
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
Mutation screening of the DYT6/THAP1 gene in Italy.
19908325
2009
×
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
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
20211909
2010
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
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
Adult-onset leg dystonia due to a missense mutation in THAP1.
20629133
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
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
20687191
2010
×
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:
1861
Gene Symbol:
TOR1A
TOR1A
0.040
Biomarker
disease
BEFREE
Intraoperative microelectrode recordings under general anesthesia in two of the patients showed no difference between THAP1 and previously operated DYT1 MutC.
20687193
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
CausalMutation
disease
CLINVAR
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
20865765
2010
×
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
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
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
UNIPROT
DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
21425341
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
Truncating mutations in THAP1 define the nuclear localization signal.
21495072
2011