Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation group BEFREE Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. 30048823 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.020 GeneticVariation group BEFREE Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. 27238888 2016