Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. 22872100 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures. 16832102 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE MECP2 mutations in females lead to Rett syndrome, a neurological disorder characterized by developmental stagnation and regression, loss of purposeful hand movements and speech, stereotypic hand movements, deceleration of brain growth, autonomic dysfunction and seizures. 17584923 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome. 16806828 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. 17178248 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Cases without a detectable MECP2 mutation had a higher risk of seizure onset up to 4 years of age (P < .001) but a lower risk after 4 years (P = .08). 17011329 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 15917271 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype LHGDN Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. 15557528 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. 30642617 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Evaluations include clinical status (classic vs atypical RTT), MECP2 mutations, clinical severity, and presence, frequency, and treatment of seizures. 20231667 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Here, we report the first case of a male patient presenting with an early seizure type of Rett-like phenotypes with a missense variant of MECP2. 30569584 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54). 20397747 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Mutations of the MECP2 gene should be considered early in males with hypotonia, developmental delay, profound intellectual impairment, and seizures, associated with a mother with psychosocial, cognitive, and gastrointestinal impairments. 28089766 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype CLINVAR Prenatal diagnosis in Rett syndrome. 12065946 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. 28007990 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE The BDNF Met66 allele may protect against seizures, whereas missense mutations in the MBD of MECP2 are more frequently associated with early seizures. 18434641 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 Biomarker phenotype BEFREE The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively. 21775177 2011