rs1057519566, MDH2

N. diseases: 7
Disease: Encephalopathy, CTCAE 3.0 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017