Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016