Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 GeneticVariation disease BEFREE Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterized by moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers in males. 20637903 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 Biomarker disease HPO