Dystonia, dopa-responsive, with or without hyperphenylalaninemia

Disease Term Disease ID Gene Symbol Classification References Source
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) C2673535 GCH1 Causal Pathogenic evidence from ClinVar - ClinVar
TH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 5836553, 7592982, 7814018, 8528210, 8817341, 9235905, 9613851, 9703425, 10585338, 11160968, 11196107, 11246459, 11281275, 12891655, 15505183, 15747353, 16049992, 17696123, 17698383, 18058633, 18554280, 19491146, 20056467, 20198643, 20430833, 20823027, 21465550, 21937992, 21940685, 22264700, 22815559, 23480488, 23762320, 23939262, 24753243, 25224241, 25758715, 25910213, 26276013, 27934587, 28087438, 28667724, 29225908, 30383639 -