Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.030 Biomarker disease BEFREE Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL). 25155315 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease MGD Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. 16364897 2005
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. 17428918 2007
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.010 GeneticVariation disease BEFREE Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia (DYT5). 10737119 1998
Entrez Id: 2915
Gene Symbol: GRM5
GRM5 		0.010 Biomarker disease BEFREE Negative allosteric modulation of mGlu5 receptor rescues striatal D2 dopamine receptor dysfunction in rodent models of DYT1 dystonia. 24951854 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 25403864 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 11523564 2001
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.030 AlteredExpression disease BEFREE Our data demonstrate that THAP1 regulates the transcription of TOR1A, suggesting transcriptional dysregulation as a cause of dystonia. 20976771 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. 27490483 2016
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease MGD Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia. 24121114 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease BEFREE The clinical features of prominent cranial involvement and impaired speech distinguish this "non-DYT1" early-onset ITD family from the typical DYT1 phenotype. 7845403 1994
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early onset dystonia protein torsinA interacts with kinesin light chain 1. 14970196 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. 20169475 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR The molecular genetics of the dystonias. 9576529 1998
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1. 18477710 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease BEFREE The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1. 18477710 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. 18827015 2008
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.030 GeneticVariation disease BEFREE We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. 20925076 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease BEFREE We report here different assays useful in determining various parameters of cell migration in DYT1 patient cells as a consequence of the TOR1A gene mutation, including a microfluidic platform, which provides a means to evaluate real-time vectorial movement with single cell resolution in a three-dimensional environment. 24880044 2014