Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease GENOMICS_ENGLAND De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 30424743 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease HPO