Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.110 GeneticVariation disease BEFREE Biallelic mutations in WARS2 are rare and have been associated with a spectrum of clinical presentations, including neurodevelopmental disorder with abnormal movements, lactic acidosis with or without seizures (NEMMLAS). 31282308 2019
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.110 Biomarker disease HPO