Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. 29369404 2018
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 Biomarker disease GENOMICS_ENGLAND GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 CausalMutation disease CLINVAR