Gene: MECP2 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. 21764336 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. 21160487 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. 20116947 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 Rett mutations affect large scale chromatin organization. 21831886 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. 21420494 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations. 21695138 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. 21372149 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations. 21878110 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. 20093853 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 mutant protein is expressed in astrocytes as well as in neurons and localizes in the nucleus. 20625242 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. 20631224 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation. 20142466 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Epilepsy and the natural history of Rett syndrome. 20231667 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. 20098342 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. 20661168 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Updating the profile of C-terminal MECP2 deletions in Rett syndrome. 19914908 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 19652677 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. 19442733 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. 19552836 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Mutations in MECP2 cause classic or preserved speech variant Rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males. 18989701 2009