Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 GeneticVariation group 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: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 Biomarker group BEFREE Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. 28794131 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.030 GeneticVariation group BEFREE Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. 28892570 2017