Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.110 GeneticVariation phenotype 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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.110 Biomarker phenotype HPO