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 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. 27255190 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 27465203 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Functional outcomes in Rett syndrome. 26175308 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Brief report: systematic review of Rett syndrome in males. 26254891 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. 24508304 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 24626160 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation. 24328834 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. 23262346 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Pubertal trajectory in females with Rett syndrome: a population-based study. 23270700 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Our data are compatible with the hypothesis that brain dysfunction in RTT is caused by a loss of the MeCP2 'bridge' between the NCoR/SMRT co-repressors and chromatin. 23770565 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. 23452848 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. 21982064 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Molecular diagnostic dilemmas in Rett syndrome. 22277191 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 CausalMutation disease CLINVAR Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. 22525432 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		1.000 GeneticVariation disease CLINVAR MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. 21982064 2012