Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 Biomarker group BEFREE The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. 26164757 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 GeneticVariation group BEFREE Therefore, we conclude that these p35 mutations are unlikely to cause mental retardation. 26469698 2015