Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 GeneticVariation disease UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 Biomarker disease GENOMICS_ENGLAND Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935 2017
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 Biomarker disease GENOMICS_ENGLAND A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 Biomarker disease GENOMICS_ENGLAND A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731 2004
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 GeneticVariation disease CLINVAR
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.600 CausalMutation disease CLINVAR