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 Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report. 20450308 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 CausalMutation disease CLINVAR