Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 Biomarker disease CTD_human
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.200 GeneticVariation disease CLINVAR
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 CausalMutation disease CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.140 CausalMutation disease CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.140 GeneticVariation disease CLINVAR
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		0.110 CausalMutation disease CLINVAR
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 22899
Gene Symbol: ARHGEF15
ARHGEF15 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.300 Biomarker disease CLINGEN Mutations in human dynamin block an intermediate stage in coated vesicle formation. 8101525 1993
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease CLINGEN G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846 1997
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 GeneticVariation disease CLINVAR Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 11254444 2001
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 11254444 2001
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.150 CausalMutation disease CLINVAR Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 11572947 2001
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 GeneticVariation disease BEFREE This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect. 12177367 2002
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 GeneticVariation disease BEFREE This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect. 12177367 2002
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.010 Biomarker disease BEFREE This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). 12376946 2002
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 GeneticVariation disease CLINVAR Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). 12576172 2003
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). 12576172 2003
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 GeneticVariation disease BEFREE Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. 12736870 2003