Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 GeneticVariation phenotype BEFREE Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population. 26704435 2016
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 GeneticVariation phenotype BEFREE Our patient and three other reported carriers of non-c.907_909delGAG-mutations within the first three exons of TOR1A showed similar phenotypes of adult-onset focal or segmental cervical dystonia. 26297380 2015
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 Biomarker phenotype BEFREE DYT6 testing is recommended in early-onset or familial cases with cranio-cervical dystonia or after exclusion of DYT1. 20482602 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 Biomarker phenotype BEFREE We studied seven subjects with ID: all had cervical dystonia as their main symptom (one patient also had spasmodic dysphonia and two patients had concurrent generalized dystonia, both DYT1-negative). 17230463 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 Biomarker phenotype BEFREE The DYT1 forms of generalized dystonia and cervical dystonias respond to DBS better than secondary dystonia does. 15264771 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 GeneticVariation phenotype BEFREE Analysis of 83 published series including 5,057 patients indicated significant differences in the mean age at onset of five phenotypes of PTD (mean age at onset; 95% CI): DYT1 dystonia (11.3 years; 10.3 to 12.2), writer's cramp (38.4; 36.9 to 39.9), CD (40.8; 40.3 to 41.3), spasmodic dysphonia (43.0; 42.2 to 43.9), and blepharospasm-oromandibular dystonia (55.7; 55.1 to 56.4). 15505159 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.070 Biomarker phenotype BEFREE We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia. 10225357 1999