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
0.020 GeneticVariation disease BEFREE In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54). 20397747 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.020 GeneticVariation disease BEFREE These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. 15492925 2004
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.020 GeneticVariation disease LHGDN These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. 15492925 2004