rs367874223, TH

N. diseases: 2
Disease: Dopa-Responsive Dystonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
0.010 GeneticVariation BEFREE To investigate the role of molecular assemblies in the pathogenesis of DRD, we compared the structure of WT hTH1 with the DRD-associated variants R410P and D467G that are found in vicinity of the predicted subunit interfaces. 30411798 2019