Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866

2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR MECP2 mutations in males. 17351020

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR MECP2 mutations in males. 17351020

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977

2004