CPLX1, complexin 1, 10815

N. diseases: 138; N. variants: 5
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 GeneticVariation disease UNIPROT Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. 28422131 2017
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 Biomarker disease GENOMICS_ENGLAND Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. 28422131 2017
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 GeneticVariation disease CLINVAR Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. 28422131 2017
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 GeneticVariation disease CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 GeneticVariation disease UNIPROT Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
CUI: C4693810
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 		0.600 CausalMutation disease CLINVAR