Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 Biomarker disease GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 CausalMutation disease CLINVAR Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 27521439 2016
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 CausalMutation disease CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043 2016
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 CausalMutation disease CLINVAR De novo GABRA1 mutations in Ohtahara and West syndromes. 26918889 2016
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 CausalMutation disease CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 GeneticVariation disease UNIPROT Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 21714819 2011
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 GeneticVariation disease UNIPROT A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. 16718694 2006
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 GeneticVariation disease UNIPROT Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 11992121 2002
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.600 GeneticVariation disease CLINVAR