Disease Term Disease ID Gene Symbol Classification References Source
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 137898 DARS2 Causal Pathogenic evidence from ClinVar - ClinVar
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation C1970180 DARS2 Causal Pathogenic evidence from ClinVar 17384640, 19592391, 22843165, 23065766, 23652419, 24005482, 24357685, 24407472, 25655951, 27604308, 28334938 ClinVar