Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.320 Biomarker disease BEFREE Therefore, ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. 21633362 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.320 Biomarker disease CTD_human Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses. 21807943 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.320 GeneticVariation disease BEFREE Consequently, we sequenced the coding exons and intron/exon borders of the ARHGEF9 gene in 99 probands from families with X linked mental retardation (XLMR) and 477 mentally retarded males in whom a diagnosis of Fragile X syndrome had been excluded. 17893116 2008