rs794727152, SCN2A

N. diseases: 2
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 CausalMutation CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation UNIPROT
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 GeneticVariation CLINVAR