Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
0.310 Biomarker phenotype CTD_human Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors. 16339034 2005
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
0.310 GeneticVariation phenotype BEFREE Analyses of functional properties of four nAChR mutants associated with ADNFLE indicate that a gain of function of these mutant receptors may be at the origin of the neuronal network dysfunction that causes the epileptic seizures. 12121305 2002
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
0.310 Biomarker phenotype CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000