Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 GeneticVariation disease UNIPROT A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. 23148524 2012
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 GeneticVariation disease UNIPROT A functional null mutation of SCN1B in a patient with Dravet syndrome. 19710327 2009
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 Biomarker disease GENOMICS_ENGLAND Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 Biomarker disease CTD_human
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 CausalMutation disease CLINVAR
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		0.700 GeneticVariation disease CLINVAR