MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Rett Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 29618507 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome. 28592917 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1. 28348241 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome. 28498846 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. 28709814 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Therefore, the elevated PTP1B that accompanies disruption of MECP2 function in RTT represents a barrier to BDNF signaling. 26214522 2015
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. 23892605 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2). 22343140 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human MeCP2-deficient mice recapitulate the neurological degeneration observed in RTT patients. 22532851 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN We show by using an inducible model of RTT that deletion of Mecp2 in adult mice recapitulates the germline knock-out phenotype, underscoring the ongoing role of MeCP2 in adult neurological function. 21636743 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2, and drug testing in RTT mice and clinical trials in human RTT patients. 21966470 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human RTT is caused by loss of function mutations in the gene that encodes methyl-CpG-binding protein 2 (Mecp2) (Amir et al., 1999), a transcriptional repressor that targets genes essential for neuronal survival, dendritic growth, synaptogenesis, and activity dependent plasticity. 21316312 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. 19921286 2010
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. 20098342 2010
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene. 19190538 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism. 19000991 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Seizures in Rett syndrome: an overview from a one-year calendar study. 17433737 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease UNIPROT Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding. 17296936 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CLINGEN Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons. 17289941 2007
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease CTD_human Mutations within the MeCP2 gene have been found to cause Rett syndrome, a disorder of arrested neuronal development. 16670375 2006