Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 GeneticVariation group BEFREE Further analysis revealed that all ARHGEF9 mutations were associated with intellectual disability, suggesting its critical role in psychomotor development. 29130122 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 GeneticVariation group BEFREE Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. 28620718 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 Biomarker group BEFREE With this report, we provide further evidence for the role of ARHGEF9 in neurocognitive function, its implication in ASD, and review the clinical features of previously published individuals with ARHGEF9-related intellectual disability. 27238888 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 Biomarker group BEFREE De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. 21626670 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 GeneticVariation group BEFREE The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy. 21633362 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 GeneticVariation group BEFREE A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.070 Biomarker group 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