MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: Encephalopathy, CTCAE 3.0 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation phenotype CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017