Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 GeneticVariation disease BEFREE We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes. 25140394 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 AlteredExpression disease BEFREE Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression. 23463539 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 Biomarker disease HPO