TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE To determine the frequency of this mutation in a larger series of patients, we examined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. 11104212 2000
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE To evaluate the contribution of these genetic loci to other families with familial "non-DYT1" dystonia five large families with dystonia were studied using genetic markers spanning the DYT6 and DYT7 regions. 10449567 1999