Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 Biomarker disease GENOMICS_ENGLAND CAD mutations and uridine-responsive epileptic encephalopathy. 28007989 2017
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 GeneticVariation disease UNIPROT Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 GeneticVariation disease UNIPROT Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. 25678555 2015
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 GermlineCausalMutation disease ORPHANET Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. 25678555 2015
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 CausalMutation disease CLINVAR
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 Biomarker disease CTD_human
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 GeneticVariation disease CLINVAR