Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.030 GeneticVariation disease BEFREE Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. 30048823 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.030 GeneticVariation disease BEFREE Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. 27238888 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.030 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