Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		0.100 CausalMutation CLINVAR De novo GABRA1 mutations in Ohtahara and West syndromes. 26918889

2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		0.100 CausalMutation CLINVAR Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 27521439

2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		0.100 CausalMutation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043

2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		0.100 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014