WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.100 CausalMutation disease CLINVAR The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.100 GeneticVariation disease CLINVAR