Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 		0.500 Biomarker disease GENOMICS_ENGLAND A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. 31584066 2020
CUI: C3554316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 		0.500 GeneticVariation disease UNIPROT West syndrome caused by ST3Gal-III deficiency. 23252400 2013
CUI: C3554316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 		0.500 Biomarker disease GENOMICS_ENGLAND West syndrome caused by ST3Gal-III deficiency. 23252400 2013