| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.580 | GeneticVariation | disease | BEFREE | Our meta-analysis revealed a significant implication of rs1182 and rs1801968 TOR1A variants in the development of focal dystonia and writer's cramp respectively. | 28081261 | 2017 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | Lack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese population. | 26803725 | 2016 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | TOR1A (torsinA, DYT1) is the leading cause of early-onset generalized dystonia, however, the associations between common TOR1A single nucleotide polymorphisms (SNPs) and primary adult-onset focal dystonia are controversial. | 26704435 | 2016 | ||||
|
0.580 | Biomarker | disease | CTD_human | Mutations in GNAL cause primary torsion dystonia. | 23222958 | 2013 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. | 20669276 | 2010 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | In light of these findings, a more comprehensive genetic effort is warranted to identify the role of this and other rare TOR1A variants in the expression of late onset, focal dystonia. | 19955557 | 2010 | ||||
|
0.580 | Biomarker | disease | BEFREE | Stereotactic MRI in DYT1 dystonia: focal signal abnormalities in the basal ganglia do not contraindicate deep brain stimulation. | 18477841 | 2008 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. | 17133500 | 2007 | ||||
|
0.580 | GeneticVariation | disease | BEFREE | Taken together, these results suggest that most cases of focal dystonia in patients of northern German or central European origin are due neither to the GAG deletion in DYT1 nor to a proposed founder mutation on chromosome 18p but must be caused by other genetic or environmental factors. | 9837831 | 1998 | ||||
|
0.580 | Biomarker | disease | MGD |