Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE These data suggest a direct link between changes in the O-GlcNAcome and intellectual disability observed in patients carrying OGT mutations. 31627256 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group BEFREE Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability. 31296563 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO