Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 GeneticVariation disease BEFREE In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. 30280376 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO