Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 GeneticVariation disease CLINVAR MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 26490184 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 27442528 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 26604147 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 25634563 2015
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480 2015
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 GeneticVariation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993 2014
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209 2014
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 24626160 2014
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. 23770565 2013
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587 2013
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
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
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
0.720 CausalMutation disease CLINVAR Pubertal trajectory in females with Rett syndrome: a population-based study. 23270700 2013