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 EIF2S3, encoding the eIF2γ subunit, are associated with severe intellectual disability and microcephaly, usually as part of MEHMO syndrome. 30878599 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 Biomarker disease HPO