rs1057519566, MDH2

N. diseases: 7
Disease: Infantile encephalopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017