Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.040 Biomarker disease BEFREE De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. 21626670 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.040 GeneticVariation disease BEFREE The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy. 21633362 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.040 GeneticVariation disease BEFREE A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.040 Biomarker disease BEFREE While ARHGEF9 appears to be an uncommon cause of mental retardation in males, it should be considered in patients with mental retardation and sensory hyperarousal. 17893116 2008