CUX2, cut like homeobox 2, 23316

N. diseases: 87; N. variants: 21
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease UNIPROT A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease UNIPROT The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 CausalMutation disease CLINVAR