Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH
0.330 GeneticVariation phenotype BEFREE Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). 22166420 2012
Entrez Id: 7054
Gene Symbol: TH
TH
0.330 Biomarker phenotype CTD_human Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2006
Entrez Id: 7054
Gene Symbol: TH
TH
0.330 Biomarker phenotype BEFREE Dopa-responsive dystonia (DRD) is a disease in which a deficiency of tetrahydrobiopterin, or, less commonly, of tyrosine hydroxylase, results in levodopa-responsive dystonia with parkinson features in children. 10830421 2000
Entrez Id: 7054
Gene Symbol: TH
TH
0.330 Biomarker phenotype BEFREE Tyrosine hydroxylase and levodopa responsive dystonia. 2565377 1989