Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 GeneticVariation disease BEFREE Case 1, a female with a known ARX mutation has refractory infantile spasms and severe mental retardation. 18462864 2008
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 GeneticVariation disease BEFREE Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). 16015284 2005
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 Biomarker disease HPO