Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748070
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 		0.600 CausalMutation disease CLINVAR
CUI: C4748070
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 		0.600 Biomarker disease GENOMICS_ENGLAND Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. 28867141 2017
CUI: C4748070
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 		0.600 GeneticVariation disease UNIPROT A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. 29656858 2018