Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.100 CausalMutation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.100 CausalMutation phenotype CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.100 CausalMutation phenotype CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012