MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group BEFREE The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well-characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. 18512755 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR MECP2 mutations in males. 17351020 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR MECP2 mutations in males. 17351020 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation group CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation group CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005