Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.570 GeneticVariation ORPHANET Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. 23895530

2013
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.570 GeneticVariation ORPHANET The genetics of Dravet syndrome. 21463275

2011
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.570 GeneticVariation ORPHANET Six of these Dravet syndrome patients with SCN9A missense variants also harbored either missense or splice site SCN1A mutations and three had no SCN1A mutations. 19763161

2009
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.570 GeneticVariation ORPHANET A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. 18755274

2008