Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.030 GeneticVariation phenotype BEFREE Recently, mutations of DNAJC12 gene were reported to be associated with early-onset parkinsonism, progressive neurodevelopmental delay, and dystonia in several unrelated pedigrees. 29801756 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.030 Biomarker phenotype BEFREE Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. 28794131 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.030 GeneticVariation phenotype BEFREE Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. 28892570 2017