Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease BEFREE Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. 29341476 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 Biomarker disease GENOMICS_ENGLAND Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 29618507 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease CLINVAR MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 26490184 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 27442528 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 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 		0.720 CausalMutation disease CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation 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 		0.720 CausalMutation disease CLINVAR Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 26604147 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease BEFREE We describe here the first case of MECP2-related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT. 27090848 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 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 		0.720 CausalMutation disease CLINVAR Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 25634563 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 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 		0.720 CausalMutation disease CLINVAR Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. 24970834 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. 23770565 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 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 		0.720 CausalMutation disease CLINVAR Pubertal trajectory in females with Rett syndrome: a population-based study. 23270700 2013