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 De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. 26833328 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 Biomarker disease BEFREE It is primarily the recent revelations of USP9X's pivotal role in human cancers, both as oncogene or tumour suppressor, in developmental disorders including intellectual disability, epilepsy, autism and developmental delay that has led to a subsequent re-examination of its molecular and cellular functions. 25672900 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.120 Biomarker disease HPO