Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 GeneticVariation disease BEFREE Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have recently been shown to cause severe intellectual disability with early-onset epilepsy. 26682508 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 Biomarker disease HPO