Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.310 GeneticVariation phenotype BEFREE Patients with the GABRA2 and GABRB3 variants also presented with severe epilepsy and developmental delay. 29961870 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.310 Biomarker phenotype GENOMICS_ENGLAND Amino acid uptake by the mammary gland of the lactating ewe. 678219 1978