Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 GeneticVariation CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546

2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 CausalMutation CLINVAR