Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group BEFREE We explore the field through the lens of Chd3, Chd4, and Chd5 proteins, which incorporate into the nucleosome remodeling and deacetylase (NuRD) complex, and the related proteins Chd7 and Chd8, implicated in the pathogenesis of intellectual disability and autism spectrum disorders. 31146125 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE In addition to macrocephaly and intellectual disability, CHD3 variants are associated with inguinal hernias and apraxia of speech; whereas CHD4 variants are associated with skeletal anomalies, deafness, and cardiac defects. 31737996 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO