rs886037940, GABRB3

N. diseases: 1
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 CausalMutation CLINVAR