WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 GeneticVariation disease UNIPROT WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. 25411445 2015
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 Biomarker disease GENOMICS_ENGLAND The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 Biomarker disease GENOMICS_ENGLAND The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 Biomarker disease CTD_human
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 CausalMutation disease CLINVAR
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 GeneticVariation disease CLINVAR