TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.040 Biomarker phenotype BEFREE Six months old DYT1 KI mice but not wildtype controls responded with hyperactivity to blue light specifically at 25 ms pulse duration, 10 Hz frequency. 30819512 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.040 GeneticVariation phenotype BEFREE Early-onset generalized dystonia attributable to a DYT1 gene mutation is a hyperkinetic movement disorder that responds poorly to pharmacotherapy. 16830314 2006
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.040 GeneticVariation phenotype BEFREE Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that has recently been linked to a 3-base pair deletion in the DYT1 gene. 10871631 2000
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.040 GeneticVariation phenotype BEFREE Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkinetic movement disorder with incomplete penetrance, associated with a 3 base-pair deletion in the DYT1 gene on chromosome 9q34. 9749595 1998