×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
CausalMutation
disease
CLINVAR
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
10577905
1999
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
10986043
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
CausalMutation
disease
CLINVAR
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
MECP2 mutation in male patients with non-specific X-linked mental retardation.
11007980
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
MECP2 is highly mutated in X-linked mental retardation.
11309367
2001
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
11885030
2002
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
12325019
2002
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
12161600
2002
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
A Rett syndrome MECP2 mutation that causes mental retardation in men.
11805248
2002
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
12615169
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
A novel familial MECP2 mutation in a young boy: clinical and molecular findings.
16966553
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
GeneticVariation
disease
UNIPROT
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
17296936
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
CausalMutation
disease
CLINVAR
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
17084570
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
CausalMutation
disease
CLINVAR
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
20479760
2011
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.700
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
0.700
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
0.700
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