Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 GeneticVariation disease BEFREE SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 GeneticVariation disease CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846 2018