| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.330 | Biomarker | phenotype | CTD_human | Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. | 15505183 | 2006 | ||||
|
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 | ||||
|
0.330 | Biomarker | phenotype | BEFREE | Tyrosine hydroxylase and levodopa responsive dystonia. | 2565377 | 1989 |