TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Early onset torsion dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		0.010 GeneticVariation disease BEFREE Advances in the molecular genetics of dystonia have led to the recent identification of a 3-bp deletion in the DYT1 gene, causing early-onset generalized torsion dystonia (TD), and to the detection of mutations in the GTP cyclohydrolase I and the tyrosine hydroxylase genes causing dopa-responsive dystonia (DYT5). 12194383 1999