Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.300 Biomarker disease CTD_human Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.300 Biomarker disease CTD_human The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures. 17196942 2007
Entrez Id: 51305
Gene Symbol: KCNK9
KCNK9 		0.300 Biomarker disease CTD_human A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy. 15781965 2005
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.300 Biomarker disease CTD_human entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. 14660671 2004
Entrez Id: 8629
Gene Symbol: JRK
JRK 		0.300 Biomarker disease CTD_human 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: 114327
Gene Symbol: EFHC1
EFHC1 		0.300 Biomarker disease CTD_human
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.300 Biomarker disease CTD_human
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		0.010 GeneticVariation disease BEFREE We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). 26278570 2015