Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 GeneticVariation group BEFREE Suspected clinical diagnoses prior to identification of PLPBP variants included mitochondrial encephalopathy (two patients), folinic acid-responsive epilepsy (one patient) and a movement disorder compatible with AADC deficiency (one patient). 30668673 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 Biomarker group HPO