Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. 31139695 2019
CUI: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		0.600 GeneticVariation disease UNIPROT Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. 28334793 2017
CUI: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		0.600 CausalMutation disease CLINVAR
CUI: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		0.600 GeneticVariation disease CLINVAR