Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. 31606551 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder. 31038696 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. 31816669 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. 31535341 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE Systematically review the abnormalities in event related potential (ERP) recorded in Rett Syndrome (RTT) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (MECP2 mutations). 31812082 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Our study sheds light on the relevance of the protein-regulation of main physiological process in the complex mechanisms leading from Mecp2 mutation to the RTT clinical phenotype. 31629059 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome. 31784358 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE In Mecp2-null rats, abnormalities in breathing patterns were apparent in both decerebrate rats and awake animals, suggesting that RTT-type breathing abnormalities take place in the brainstem without forebrain input. 30458221 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Age, methyl-CpG binding protein 2 gene (MECP2) mutation, RTT Severity Scale (RSSS) score, breathing abnormalities, seizure frequency, medications, and ECG parameters were collected. 31797351 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT. 30217666 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). 31542590 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and memory deficits present in mouse models of Rett syndrome and <i>MECP2</i> duplication syndrome. 31416907 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. 31074665 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE It has been the subject of extensive study because of its link with 'MECP2-related disorders', of which Rett syndrome is the most prevalent. 31629770 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. 31105003 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE Although the alterations seen in mouse models of RTT appear to be primarily due to cell-autonomous effects, there are also non-cell autonomous mechanisms including those caused by MeCP2-deficient glia that negatively impact healthy neuronal function. 30502397 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Genetic mutations of the Methyl-CpG-binding protein-2 (MECP2) gene underlie Rett syndrome (RTT). 31239460 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. 30789962 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. 31647993 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE In this study, female heterozygous Mecp2-null mice (Mecp2+/- mice), a model of RTT, were fed a normal chow diet or high-fat diet (HFD), and the changes in molecular signaling pathways were investigated. 30608967 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE We show that this approach can be used to introduce PTMs and biochemical probes into a range of proteins including Cas9 nuclease and the transcriptional regulator MeCP2, which causes Rett syndrome when mutated. 31263208 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. 30417326 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is a severe neurodevelopmental disorder that is associated in most cases with mutations in the transcriptional regulator MECP2. 31704481 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 GeneticVariation disease BEFREE MeCP2 is an X-linked gene; its mutation causes Rett Syndrome (RTT), a severe neurodevelopmental disability that affects mainly girls. 31214863 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
1.000 Biomarker disease BEFREE Mouse models of MeCP2 dysfunction that have been developed are thus important not only for examining the protein's contribution to RTT, but also for elucidating the etiologies of other MECP2-associated neuropsychiatric disorders. 31273723 2019