Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.110 GeneticVariation phenotype BEFREE We identified GRIN2B gain-of-function mutations as a cause of West syndrome with severe developmental delay as well as of ID with childhood onset focal epilepsy. 24272827 2014
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.110 GeneticVariation phenotype CLINVAR