TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Childhood Onset Dystonias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		0.320 GeneticVariation disease BEFREE Heterozygosity for the TOR1A-Δgag mutation causes semi-penetrant childhood-onset dystonia (OMIM #128100). 29868845 2018
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		0.320 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		0.320 GeneticVariation disease BEFREE The three-nucleotide deletion, triangle upGAG (within the gene TOR1A), is the only proven cause of childhood-onset dystonia (DYT1). 18477710 2008