Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.020 GeneticVariation disease BEFREE Patient with mutation in the PARK2 gene had Dopa-responsive dystonia with a good improvement with L-Dopa, similar to Dopa-responsive dystonia secondary to GCH1 mutations. 19491146 2009
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
0.020 GeneticVariation disease BEFREE Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. 10825351 2000