Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.120 Biomarker phenotype HPO
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.120 GeneticVariation phenotype BEFREE Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). 22266882 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.120 GeneticVariation phenotype BEFREE We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel homozygous missense variant (p.Gly318Ser) with a severe arthrogryposis phenotype with developmental delay, strabismus and tremor in three unrelated Iranian families. 29053766 2017