TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
0.320 Biomarker phenotype CTD_human Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2004
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
0.320 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
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
0.320 Biomarker phenotype BEFREE Tyrosine hydroxylase and levodopa responsive dystonia. 2565377 1989