Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group BEFREE Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 30827496 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker group GENOMICS_ENGLAND Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017