Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013