THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Dystonia, Primary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 Biomarker disease BEFREE The aim of our study was to assess the association of TOR1A and THAP1 with adult-onset primary focal dystonia (AOPFD), the most common subtype of primary dystonia. 26803725 2016
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Our results indicate that certain mutations in the THAP1 gene may lead to primary dystonia with remarkable intrafamilial clinical variability. 25168324 2014
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 Biomarker disease BEFREE While deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in treating primary dystonia, recent reports indicate that GPi DBS is only mildly effective for DYT6 dystonia. 25359437 2014
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 Biomarker disease BEFREE Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites. 24500857 2014
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE The mutation frequency of THAP1 gene in Serbian patients with primary dystonia was 1.8 %, similar to the mutation frequency in other populations. 23180184 2013
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE In previous work, we screened 1114 subjects with mainly adult-onset primary dystonia (Neurology 2010; 74:229-238) and identified 6 missense mutations in THAP1. 22377579 2012
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6 primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions. 22844099 2012
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Mutations in the THAP1 gene have recently been identified as the cause of DYT6 primary dystonia. 22652465 2012
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Novel THAP1 gene mutations in patients with primary dystonia from southwest China. 21839475 2011
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Our findings indicate that the c.-237_236GA>TT THAP1 sequence variant does not increase risk for adult-onset primary dystonia in Caucasians. 21370264 2011
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 Biomarker disease BEFREE TOR1A(DYT1) and the transcription factor THAP1(DYT6) are the only genes identified thus far for primary dystonia. 20865765 2010
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Prevalence of THAP1 sequence variants in German patients with primary dystonia. 20669277 2010
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. 20925076 2010
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE With high-resolution melting, all 3 THAP1 exons were screened for sequence variants in 1,114 subjects with mainly adult-onset primary dystonia, 96 with unclassified dystonia, and 600 controls (400 neurologically normal and 200 with Parkinson disease). 20083799 2010
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		0.400 GeneticVariation disease BEFREE Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent. 19345147 2009