MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Overgrowth ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR MECP2 mutations in males. 17351020 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977 2004
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169 2003
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330 2001
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR DNA recognition by the methyl-CpG binding domain of MeCP2. 11035019 2001
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735 1993