TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Dystonias, Sporadic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		0.320 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		0.320 GeneticVariation disease BEFREE While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia. 16631205 2006
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		0.320 GeneticVariation disease BEFREE Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia. 17130424 2006