Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SCN3A cause early infantile epileptic encephalopathy. 29466837 2018
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.600 GeneticVariation disease UNIPROT Mutations in SCN3A cause early infantile epileptic encephalopathy. 29466837 2018
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.600 Biomarker disease GENOMICS_ENGLAND SCN3A deficiency associated with increased seizure susceptibility. 28235671 2017
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.600 CausalMutation disease CLINVAR