Gene: THAP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 Biomarker disease MGD Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. 26376866 2015
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref.5), have been identified. 23222958 2013
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 Biomarker disease BEFREE Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. 21949105 2012
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). 20925076 2010
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE Another mutation in a German family with primary torsion dystonia suggests that THAP1 mutations also cause dystonia in other ancestry groups. 19182804 2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. 19908325 2009
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 Biomarker disease BEFREE The DYT6 gene for primary torsion dystonia (PTD) was mapped to chromosome 8p21-q22 in two Amish-Mennonite families who shared a haplotype of marker alleles across a 40 cM linked region. 17702011 2007
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE Predominant cranial-cervical involvement of dystonia occurred in this family, which has also been described in patients with idiopathic torsion dystonia linked to the DYT6 region on chromosome 8 and is a rare finding in DYT1 dystonia. 15897512 2005
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 GeneticVariation disease BEFREE We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. 9382482 1997
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.390 Biomarker disease HPO