Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081 2009
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 GeneticVariation UNIPROT Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. 16326807 2005