Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE ARHGEF9 mutations have been identified in patients with heterogeneous phenotypes, including epilepsy of variable severity and intellectual disability. 29130122 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. 28620718 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins (NLGN2, NLGN4), the neurexins (NRXN1, NRXN2, NRXN3) and collybistin (ARHGEF9). 23393157 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE Mutations or disruption of ARHGEF9 due to chromosomal rearrangements have been found in three patients with various clinical presentations: nevertheless, all 3 presented with MR and 2 with epilepsy. 21626670 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE The common phenotypic effects of all ARHGEF9 mutations were mental retardation and epilepsy. 21633362 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.060 GeneticVariation disease BEFREE A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 18615734 2009