Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group 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
0.400 GeneticVariation group 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
0.400 Biomarker group BEFREE We compared the protein cargo and signaling bioactivity of exosomes released by hiPSC-derived neural cultures lacking MECP2, a model of the neurodevelopmental disorder Rett syndrome, with exosomes released by isogenic rescue control neural cultures. 31320591 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. 30649225 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. 30536762 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group BEFREE Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome. 31474834 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene. 31299345 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT), a pervasive neurodevelopmental disorder, that shows also multisystem disturbances associated with a metabolic component. 30743046 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group 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
0.400 GeneticVariation group BEFREE Accordingly, MeCP2 loss- or gain-of-function mutation causes neurodevelopmental disorders, including Rett syndrome (RTT), <i>MECP2</i> duplication syndrome (MDS), and autism spectrum disorders (ASD). 31013990 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 AlteredExpression group BEFREE Remarkably, abnormal levels of MeCP2 have been associated to other neurodevelopmental disorders, as well as neuropsychiatric disorders. 31333414 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a monogenic neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. 30430747 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Altered expressions of the methyl-CpG-binding protein 2 (MECP2) gene are usually associated with neurodevelopmental disorders, such as autism spectrum disorders, Rett syndrome (RTT), and so forth. 31389199 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in MECP2. 30539330 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a postnatal neurodevelopmental disorder that primarily affects girls, with 95% of RTT cases resulting from mutations in the methyl-CpG-binding protein 2 (MECP2) gene. 30220058 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MeCP2) gene. 30905360 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene. 31796123 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group 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
0.400 GeneticVariation group BEFREE Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. 31362710 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. 31450876 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE One such gene is methyl-CpG-binding protein 2 (MECP2), which has been most prominently associated with the neurodevelopmental disorder Rett syndrome, as well as major neuropsychiatric disorders such as autism and schizophrenia. 31273722 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). 28837158 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. 30227938 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE MECP2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorders (ASD). 28961504 2018