MDH2, malate dehydrogenase 2, 4191

N. diseases: 111; N. variants: 5
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 GeneticVariation disease UNIPROT Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 Biomarker disease CTD_human
CUI: C4479208
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 		0.700 CausalMutation disease CLINVAR