Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.400 CausalMutation disease CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.400 CausalMutation disease CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.400 GermlineCausalMutation disease ORPHANET Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 GermlineCausalMutation disease ORPHANET Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 GermlineCausalMutation disease ORPHANET Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.300 GeneticVariation disease ORPHANET A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 16718694 2006
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.300 GermlineCausalMutation disease ORPHANET Association between genetic variation of CACNA1H and childhood absence epilepsy. 12891677 2003
Entrez Id: 8629
Gene Symbol: JRK
JRK 		0.300 GeneticVariation disease ORPHANET Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. 11463517 2001
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2 		0.300 GeneticVariation disease ORPHANET