MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Pervasive Development Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. 30789962 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). 23392116 2013
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Oxidative damage has been reported in Rett syndrome (RTT), a pervasive development disorder mainly caused up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. 23009927 2013
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. 22758644 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 Biomarker group CTD_human Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. 22231481 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 Biomarker group BEFREE MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. 22249109 2012
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). 22119903 2011
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively females. 21600714 2011
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). 21372149 2011
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). 20298210 2010
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is an autism spectrum disorder that results from mutations in the transcriptional regulator methyl-CpG binding protein 2 (MECP2). 19628041 2009
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 Biomarker group BEFREE We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. 19189931 2009
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Mutations in the human MECP2 gene cause the autism spectrum disorder Rett Syndrome. 18631120 2008
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. 15121991 2004
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. 12555243 2003
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.400 GeneticVariation group BEFREE Furthermore, it has been demonstrated that Rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in MECP2 gene. 12027529 2002