Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype BEFREE These findings indicated that SCN9A mutants contribute to an increase in seizure, and show distinct sensitivity to OXC. 31372899 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype BEFREE Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy. 31394368 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype BEFREE Identification of this mutation is also helpful for advancing our understanding of the role of SCN9A in epilepsy and provides deeper insights for SCN9A mutations associated with broad clinical spectrum of seizures. 30834459 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype BEFREE To establish a functional role for this mutation in seizure susceptibility, we introduced the orthologous mutation into the murine Scn9a ortholog using targeted homologous recombination. 19763161 2009
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype BEFREE Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. 16075041 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype HPO