Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C4013473
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		disease 0.600 None 1.000 4 6 2002 2019
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		disease 0.600 None 1.000 1 9 2014 2017
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.410 moderate 1.000 0 1 2013 2019
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease 0.130 None 1.000 4 3 2002 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 2 2010 2014
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 11 1 1997 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 11 1 1997 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 11 1 1997 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C1970160
Disease: Epilepsy, Childhood Absence, Susceptibility To, 4
Epilepsy, Childhood Absence, Susceptibility To, 4 		phenotype 0.100 None 1.000 4 3 2014 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		phenotype 0.100 None 0 1
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1